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Retinal capillary hemangioblastomatosis and renal tumor in Von Hippel-Lindau disease

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A 25 year-old man with no significant past medical history presented with 5 months of progressive vision loss in the right eye. Visual acuity was 20/400. Anterior segment exam was… Click to show full abstract

A 25 year-old man with no significant past medical history presented with 5 months of progressive vision loss in the right eye. Visual acuity was 20/400. Anterior segment exam was unremarkable. Fundoscopy (Fig. 1) and fluorescein angiography (Fig. 2) demonstrated multiple retinal capillary hemangioblastomas (RCHs) with associated exudative retinal detachment (RCHs), suggestive of von Hippel-Lindau (VHL) disease. Left eye exam was completely normal. The patient was adopted with no known family history and denied any other systemic manifestations of VHL. A systemic workup was completed, which demonstrated a 2.5 × 2.0 × 2.6cm contrast-enhancing right renal mass (Fig. 3, arrow), concerning for renal cell carcinoma. The patient was referred to urology, endocrinology, and genetics. The patient received serial intravitreal bevacizumab injections in the right eye without improvement. Cryotherapy and vitrectomy were recommended, but the patient declined further treatment and unfortunately was lost to follow-up.

Keywords: hippel lindau; disease; retinal capillary; von hippel

Journal Title: American Journal of Ophthalmology Case Reports
Year Published: 2020

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